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Gene

KMT2B

lysine methyltransferase 2B

Summary

Cytogenetic location
19q13.12
Coordinates
Chromosome 19: 35,718,003–35,738,878 (GRCh38)
Exons
37 exons across 20.9 kb
Protein
2,715 amino acids
Also known as
KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4, CXXC10
MANE Select transcript
ENST00000420124.4NM_014727.3
Locus type
gene with protein product

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 5 GenCC submitters rate it definitive or strong

How KMT2B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 19, with a bracket where KMT2B sits. KMT2B and 53 genes near it on chromosome 19, from 35,228,441 to 36,228,440.Chromosome 1919q13.12p13.3p13.2p13.13p13.12p13.11p12p11q11q12q13.11q13.12q13.13q13.2q13.31q13.32q13.33q13.41q13.42q13.4335.4 Mb35.6 Mb35.8 Mb36 Mb36.2 MbFAM187B: 35,224,800–35,228,739, reverse strandFAM187BLSR: 35,248,330–35,267,967, forward strandLSRUSF2: 35,268,485–35,279,821, forward strandUSF2HAMP: 35,280,716–35,285,146, forward strandHAMPMAG: 35,291,647–35,316,932, forward strandMAGCD22: 35,319,261–35,347,361, forward strandCD22FFAR1: 35,347,902–35,353,864, forward strandFFAR1FFAR3: 35,358,348–35,360,489, forward strandFFAR3GPR42: 35,371,068–35,372,962, forward strandGPR42FFAR2: 35,443,907–35,451,767, forward strandFFAR2KRTDAP: 35,487,324–35,495,558, reverse strandDMKN: 35,497,220–35,513,704, reverse strandDMKNSBSN: 35,523,367–35,528,351, reverse strandSBSNGAPDHS: 35,533,455–35,545,319, forward strandGAPDHSTMEM147: 35,545,600–35,547,527, forward strandTMEM147ATP4A: 35,549,339–35,563,658, reverse strandATP4APMIS2: 35,586,161–35,587,296, forward strandPMIS2HAUS5: 35,612,735–35,625,355, forward strandHAUS5RBM42: 35,628,989–35,638,927, forward strandRBM42ETV2: 35,641,730–35,644,871, forward strandETV2COX6B1: 35,648,230–35,662,890, forward strandCOX6B1UPK1A: 35,666,516–35,678,481, forward strandUPK1AZBTB32: 35,704,558–35,717,048, forward strandKMT2B: 35,718,003–35,738,878, forward strandKMT2BIGFLR1: 35,738,798–35,742,459, reverse strandIGFLR1: 35,739,252–35,745,432, reverse strandU2AF1L4: 35,742,464–35,745,460, reverse strandU2AF1L4PSENEN: 35,745,070–35,747,519, forward strand: 35,745,678–35,754,519, forward strandLIN37: 35,748,361–35,754,519, forward strandHSPB6: 35,754,566–35,758,079, reverse strandPROSER3: 35,758,143–35,771,398, forward strandARHGAP33: 35,774,532–35,788,822, forward strandPRODH2: 35,799,975–35,813,299, reverse strandPRODH2NPHS1: 35,825,372–35,869,287, reverse strandNPHS1KIRREL2: 35,851,369–35,867,145, forward strandKIRREL2APLP1: 35,867,899–35,879,803, forward strandAPLP1NFKBID: 35,887,129–35,902,303, reverse strandNFKBIDHCST: 35,899,017–35,904,377, forward strandHCSTTYROBP: 35,904,398–35,908,318, reverse strandLRFN3: 35,935,358–35,946,624, forward strandLRFN3SDHAF1: 35,995,188–35,996,312, forward strandSDHAF1SYNE4: 36,000,545–36,008,831, reverse strandSYNE4ALKBH6: 36,009,113–36,014,297, reverse strandALKBH6CLIP3: 36,014,660–36,033,343, reverse strandCLIP3THAP8: 36,033,393–36,054,739, reverse strandWDR62: 36,054,649–36,105,112, forward strandWDR62OVOL3: 36,111,116–36,113,711, forward strandOVOL3POLR2I: 36,111,817–36,115,213, reverse strandPOLR2ITBCB: 36,114,289–36,125,948, forward strandTBCBCAPNS1: 36,139,953–36,150,356, forward strandCAPNS1COX7A1: 36,150,287–36,152,699, reverse strandZNF565: 36,181,542–36,246,257, reverse strandZNF565ZNF146: 36,214,602–36,239,969, forward strandZNF146Diagram of KMT2B: 37 exons on the forward strand of chromosome 19Exon 1: 5 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 11 known disease-causing sitesExon 4: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 7: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 15: 2 known disease-causing sitesExon 16: 1 known disease-causing siteExon 19: 2 known disease-causing sitesExon 21: 1 known disease-causing siteExon 22: 2 known disease-causing sitesExon 23: 5 known disease-causing sitesExon 24: 3 known disease-causing sitesExon 25: 1 known disease-causing siteExon 26: 1 known disease-causing siteExon 27: 2 known disease-causing sitesExon 28: 5 known disease-causing sitesExon 29: 1 known disease-causing siteExon 32: 1 known disease-causing siteExon 33: 1 known disease-causing siteExon 34: 1 known disease-causing siteExon 35: 1 known disease-causing siteExon 37: 2 known disease-causing sitesExon 1: 35,718,003–35,718,381, 379 basesExon 2: 35,719,469–35,719,541, 73 basesExon 3: 35,719,784–35,721,804, 2,021 basesExon 4: 35,722,359–35,722,472, 114 basesExon 5: 35,722,568–35,722,718, 151 basesExon 6: 35,722,995–35,723,274, 280 basesExon 7: 35,723,447–35,723,502, 56 basesExon 8: 35,723,732–35,724,007, 276 basesExon 9: 35,724,637–35,724,731, 95 basesExon 10: 35,724,989–35,725,087, 99 basesExon 11: 35,725,220–35,725,333, 114 basesExon 12: 35,725,479–35,725,625, 147 basesExon 13: 35,725,723–35,725,818, 96 basesExon 14: 35,726,236–35,726,353, 118 basesExon 15: 35,727,156–35,727,269, 114 basesExon 16: 35,727,438–35,727,622, 185 basesExon 17: 35,727,698–35,727,787, 90 basesExon 18: 35,727,881–35,727,985, 105 basesExon 19: 35,728,098–35,728,171, 74 basesExon 20: 35,728,774–35,728,889, 116 basesExon 21: 35,728,985–35,729,076, 92 basesExon 22: 35,729,159–35,729,296, 138 basesExon 23: 35,729,967–35,730,125, 159 basesExon 24: 35,730,342–35,730,462, 121 basesExon 25: 35,730,538–35,730,616, 79 basesExon 26: 35,730,707–35,730,867, 161 basesExon 27: 35,731,908–35,732,135, 228 basesExon 28: 35,732,215–35,733,508, 1,294 basesExon 29: 35,733,597–35,733,686, 90 basesExon 30: 35,733,763–35,733,872, 110 basesExon 31: 35,736,690–35,736,827, 138 basesExon 32: 35,736,912–35,736,986, 75 basesExon 33: 35,737,086–35,737,263, 178 basesExon 34: 35,737,636–35,737,743, 108 basesExon 35: 35,737,859–35,737,942, 84 basesExon 36: 35,738,062–35,738,191, 130 basesExon 37: 35,738,282–35,738,878, 597 bases15101520253035375′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 8.5 kb of the gene's 20.9 kb; 8,148 of those bases code for the protein.

How a genome test reads KMT2B

60

positions in KMT2B where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 20.9 kb of KMT2B, introns included, not only the 8.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). KMT2B gene: lysine methyltransferase 2B. Retrieved 17 October 2026, from https://dantelabs.com/genes/kmt2b

Vancouver

Dante Labs. KMT2B gene: lysine methyltransferase 2B [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/kmt2b

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